A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
Sign Up to like & getrecommendations! Published in 2017 at "Pediatrics and neonatology"
DOI: 10.1016/j.pedneo.2014.05.008
Abstract: Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective tissue… read more here.
Keywords: point mutation; disease; novo point; menkes disease ... See more keywords
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders
Sign Up to like & getrecommendations! Published in 2024 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2415755121
Abstract: Significance ATPase 11A (ATP11A) is a flippase that specifically translocates phosphatidylserine from the outer to the inner leaflet of plasma membranes. We previously reported that a point mutation at its exoplasmic site causes the aberrant… read more here.
Keywords: point mutations; point; site; novo point ... See more keywords